TY - T1的八个小说变异< em > SLC34A2 < / em >基因在肺肺泡microlithiasis JF -欧洲呼吸杂志》乔和J - 10.1183/13993003.00806 -2019欧元六世- 55 - 2 SP - 1900806 AU -琼森,Asa莉娜m . AU - Bendstrup伊丽莎白盟——Mogensen苏茜盟的人,伊丽莎白·J . AU -麦科马克弗朗西斯x非盟-坎波,Ilaria AU -马里安尼,弗朗西斯卡盟——Escribano-Montaner帕罗盟,河中沙洲是m . AU - Martinez-Colls Maria del Mar盟——Pintos-MorellGuillem盟——身材,卡米尔AU -,伽马安基丁酸布鲁诺盟——Hilberg Ole AU - Hvarregaard Christensen,简非盟-西蒙森Ulf Y1 - 2020/02/01 UR - //www.qdcxjkg.com/content/55/2/1900806.abstract N2 -背景肺肺泡microlithiasis (PAM)是由SLC34A2基因的遗传变异,合成磷酸sodium-dependent运输蛋白质2 b (NaPi-2b)。PAM的特征是在肺泡内沉积磷酸钙结石(微石)，导致肺功能障碍。SLC34A2的变异谱尚未得到很好的研究，目前尚不清楚是否存在基因型与表型的相关性。方法收集14例PAM患者及4例亲属的DNA，通过直接DNA测序分析SLC34A2的编码区。为了确定表型特征，我们收集了临床数据，并根据蛋白的类型和定位为每个变体创建了严重程度评分。结果我们在14例PAM患者中发现了8种新的SLC34A2等位基因变异。其中四个是无意义变异，三个是错义变异，一个是剪接位点变异。1例为两种不同变异的杂合子，其余均为纯合子。4例无症状，10例有症状。疾病的严重程度与变异的严重程度相关。Conclusions Our findings support a significant role for SLC34A2 in PAM and expand the variant spectrum of the disease. Thus, SLC34A2 variants were detected in all patients and eight novel allelic variants were discovered. An association between disease severity and the severity of the variants was found; however, this needs to be investigated in larger patient populations.Eight novel variants in the SLC34A2 gene have been identified in 14 patients with pulmonary alveolar microlithiasis (PAM), which emphasises the importance of the gene in the disease. Furthermore, a genotype–phenotype correlation in PAM may exist. http://bit.ly/3307M1p ER -